title: Congenital sideroblastic anemia without clinical iron overload. A case report.
abstract: An 18 year old boy presented with microcytic hypochromic anemia. Erythrocytic abnormalities and family studies suggested congenital sideroblastic anemia (CSA), but atypical features included absence of clinical iron overload, scanty iron deposits in mitochondria of late erythroblasts and reticulocytes, and a high platelet count. An unusual adhesion between bone marrow macrophages and reticulocytes was observed by electron microscopy. Haematological response was seen following pyridoxine administration, thus fending support to the diagnosis of CSA.
authors.affiliation: Service d'hématologie clinique, Hôpital Henri-Mondor, Créteil, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Pignon
authors.forename: J
authors.initials: J
authors.lastname: Breton-Gorius
authors.forename: D
authors.initials: D
authors.lastname: Bachir
authors.forename: H
authors.initials: H
authors.lastname: Rochant
mesh_terms: D000293:Adolescent; D000747:Anemia, Hypochromic / Q000097:blood / Q000175:diagnosis; D000756:Anemia, Sideroblastic / Q000097:blood* / Q000151:congenital / Q000175:diagnosis; D001853:Bone Marrow / Q000648:ultrastructure; D002448:Cell Adhesion / Q000502:physiology; D003937:Diagnosis, Differential; D006801:Humans; D007501:Iron / Q000097:blood*; D008297:Male
chemical_list: D007501:Iron